Short Description

NGS genetic DNA test detecets for variant and mutation detection in GATA4 gene for Atrioventricular septal defect type 4

PreTest Information

Clinical History of Patient who is going for GATA4 Gene Atrioventricular septal defect type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GATA4 Gene Atrioventricular septal defect type 4 NGS Genetic DNA Test gene GATA4

Detail Description

GATA4 Gene Atrioventricular Septal Defect Type 4 NGS Genetic DNA Test

Atrioventricular septal defect (AVSD) is a congenital heart defect that affects the structure of the heart. AVSD occurs when there is a hole in the wall that separates the heart's chambers, allowing blood to flow between them. This condition can cause a range of symptoms and complications, including heart failure, pulmonary hypertension, and developmental delays.

AVSD is typically caused by a combination of genetic and environmental factors. One of the genes that has been implicated in AVSD is the GATA4 gene. This gene plays a critical role in heart development, and mutations in this gene can lead to AVSD.

Symptoms of AVSD

The symptoms of AVSD can vary widely depending on the severity of the defect. In some cases, there may be no symptoms at all. In other cases, symptoms may include:

• Rapid breathing or difficulty breathing
• Poor feeding or difficulty gaining weight
• Fatigue or lethargy
• Cyanosis (a bluish tint to the skin)
• Swelling in the legs, ankles, or abdomen

Diagnosis of AVSD

AVSD is typically diagnosed using a combination of physical exams, imaging tests, and genetic testing. A doctor may perform an echocardiogram to look for abnormalities in the heart's structure and function. They may also perform other imaging tests, such as a chest X-ray or MRI. Genetic testing may also be used to identify mutations in the GATA4 gene or other genes that are associated with AVSD.

GATA4 Gene Atrioventricular Septal Defect Type 4 NGS Genetic DNA Test

The GATA4 Gene Atrioventricular Septal Defect Type 4 NGS Genetic DNA Test is a genetic test that can identify mutations in the GATA4 gene that are associated with AVSD. This test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the GATA4 gene. It can detect both known and novel mutations in the gene.

The test is typically performed using a blood sample or a saliva sample. The sample is sent to a laboratory for analysis, and the results are usually available within a few weeks.

Cost of the GATA4 Gene Atrioventricular Septal Defect Type 4 NGS Genetic DNA Test

The cost of the GATA4 Gene Atrioventricular Septal Defect Type 4 NGS Genetic DNA Test can vary depending on the laboratory that performs the test. In India, the cost of the test is typically around INR 20,000.

Conclusion

The GATA4 Gene Atrioventricular Septal Defect Type 4 NGS Genetic DNA Test is a valuable tool for diagnosing AVSD and identifying mutations in the GATA4 gene. If you or a loved one is experiencing symptoms of AVSD, it is important to speak with a healthcare provider and consider genetic testing to help guide treatment and management of the condition.

At DNA Labs India, we offer a range of genetic testing services, including the GATA4 Gene Atrioventricular Septal Defect Type 4 NGS Genetic DNA Test. Contact us today to learn more.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GATA4 Gene Atrioventricular septal defect type 4 NGS Genetic DNA Test